Pathology of Bones Flashcards

1
Q

What is the mutation found in achondroplasia?

A

1) FGF receptor 3 mutation (chromosome 4)
2) Inhibits cartilage proliferation
3) Autosomal dominant

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2
Q

Most common form of lethal dwarfism. What is the mutation associated with it?

A

1) Thanatophoric dwarfism

2) FGFR3 mutation

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3
Q

Diseases caused by the absence or mutation of type 1 collagen (alpha 1 and 2 chains)?

A

1) Osteogenesis Imperfecta

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4
Q

What are clinical features to type I osteogenesis imperfecta?

A

1) Blue sclera
2) Hearing impairment
3) Dental imperfections
4) Fractures in childhood
5) General decrease in bone

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5
Q

Rare genetic diseases that are characterized by reduced bone resoprtion and diffuse symmetric skeletal sclerosis; results in abnormally brittle bones What is the cell that is impaired?

A

1) Osteopetrosis
2) Osteoclasts are impaired
3) Osteoclast impairment is due to carbonic anhydrase II defect

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6
Q

Bones lack medullary canal, have persistence of primary spongiosa, and have erlenmeyer flask deformities; bones are sclerotic and thick, but are weak and brittle

A

Osteopetrosis

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7
Q

Is woven bone in adults normal?

A

No, abnormal

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8
Q

What are the three phases of Paget disease of the bone? What is the net result?

A

1) Initial osteolytic stage
2) Mixed osteoclastic-osteoblastic stage
3) Burnt out quiescent osteosclerotic stage
4) Gain of bone mass, but newly formed bone is disordered and structurally unsound

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9
Q

What is the hallmark for Paget disease of the bone?

A

1) Mosaic pattern of lamellar bone

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10
Q

What are complications of Paget disease of the bone?

A

1) High Output cardiac failure
2) Osteosarcoma
3) Osteoarthritis (due to bowing of the legs)

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11
Q

What are the findings of Osteitis fibrosa cystica (severe hyperparathyroidsim)?

A

1) Increased bone cell activity
2) Peritrabecular fibrosis
3) Cystic brown tumors

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12
Q
  • Pigeon breast deformity
  • Bowed legs
  • Rachitic rosary
  • Frontal bossing
A

Ricketsia

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13
Q

What skeletal changes can occur with renal osteodystrophy (five total)

A

1) Increased osteoclastic bone resoprtion (mimics osteitis fibrosa cystica)
2) Delayed matrix mineralization (mimics osteomalacia)
3) Growth retardation
4) Osteopororsis
5) Osteosclerosis

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14
Q

How does secondary parathyrodism occur in renal failure?

A

1) Renal failure results in hyperphosphatemia and decreased 1,25 dihydroxycholecalciferol
2) Increased phosphate and decreased vit. D results in increased release of PTH
3) PTH acts on osteoblasts which act on osteoclasts activating them

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15
Q

What is the worst subtype of osteoimperfecta? Which one can you live with?

A

1) Type II

2) Type I

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16
Q

What is the cause of osteopetrosis?

A

1) Impaired osteoclast activity due to mutation in carbonic anhydrase II

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17
Q

How do you differentiate osteoporosis from osteomalacia on radiograph?

A

1) Osteomalacia has trabeculae are surrounded by wide osteoid seams/osteoid matrix accumulation around trabeculae
2) Osteoporosis has even loss of mineralized and non-mineralized components of bone; trabecular thinning with fewer interconnections

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18
Q

What is the difference between senile and postmenopausal osteoporosis?

A

1) Senile = decreased activity of osteoblasts

2) Postmenopausal = increased activity of osteoclasts

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19
Q

How does hyperparathyroidism affect bone remodeling?

A

1) Increased PTH acts on osteoblasts to express RANKL
2) RANL binds to its receptor on osteoclasts activating them
3) Activated osteoclasts results in dissecting osteitis, cortical bone thinning, and brown tumors

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20
Q

What are three causes for osteonecrosis?

A

1) Idiopathic
2) Trauma
3) Corticosteroid administration

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21
Q

What organism are pt. at risk for osteomyelitis if they have sickle cell anema

A

Salmonella

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22
Q

What is the most common cause of osteomyelitis?

A

Staphylococcus aureus

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23
Q

Newly deposited bone forming sleeve of living tissue around the segment of devitalized infected bone

A

Involucrum

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24
Q

What are the radiographic findings of osteomyelitis?

A

1) Lytic focus of bone destruction surrounded by a zone of sclerosis

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25
Q

Describe Pott disease. What is its cause?

A

1) Myobacterium tuberculosis
2) Infection breaks through the intervertebral discs to involve multiple vertebrae and extend into the soft tissue forming abscesses

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26
Q

Dead piece of bone

A

Sequestreum

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27
Q

What phase of syphilis do bone lesions occur?

A

1) tertiary syphilis

28
Q

Bosselated, round sessile tumor that arises from the subperiosteal surface of the cortex; mainly arise from the face/skull; associated with Gardner syndrome

A

Osteoma

29
Q

What is the difference between an osteoid osteoma and an osteoblastoma?

A

1) Osteoid osteoma are less than 2 cm, occur primarily in the appendicular skeleton, and are responsive to aspirin
2) Osteoblastomas are greater than 2 cm, occur primarily in the vertebrae, and are not responsive to apsirin

30
Q

What are the histologic findings of osteoid osteomas and osteoblastomas?

A

1) Composed of random interconnecting trabeculae of woven bone rimmed by osteoblasts
2) stroma surrounding tumor consists of loose connective tissue that contains many capillaries

31
Q

Malignant mesenchymal tumor in which cancerous cells produce bone matrix; bimodal age distribution; tumor arises in the metaphyseal region of the long bones

A

Osteosarcoma

32
Q

What is the pathogenesis of osteosarcoma?

A

1) Associated with mutations of RB and p53

33
Q

What are histologic findings of osteosarcoma?

A

1) Tumor giant cells with mitoses
2) Tumor cells form bone
3) Extension into the medullary canal
4) Bone has coarse, lace like architecture
5) May have the presence of cartilage

34
Q

What is the Codman triangle and what is it associated with?

A

1) triangular shadow on radiograph formed by the cortex and raised ends of the periosteum
2) Associated with Osteosarcoma

35
Q

What should you think if a 70 year old has elevated alkaline phosphatase?

A

Paget disease of the bone

36
Q

Herring bone pattern

A

Fibrosarcoma

37
Q

What is the most common cause of osteomyelitis in adults? In newborns? In IV drug users? In Sickle cell anemia?

A

1) Staphylococcus aureus
2) Group B Streptococcus
3) E. coli
4) Salmonella

38
Q

Benign cartilage capped tumor that is attached to the underlying skeleton by a bony stalk; arise from the metaphysis

A

Osteochondroma

39
Q

Where do osteosarcomas arise?

A

1) Generally originate in the metaphyseal region of bone

40
Q

Mixed sclerotic and lytic lesions on radiograph

A

Osteosarcoma

41
Q

How does osteosarcoma spread?

A

Hematogenously

42
Q

Where do osteosarcomas generally arise and spread extensively through the medullary canal?

A

Metaphyseal region of long bones

43
Q

Where do osteochondromas develop?

A

1) They develop only in bones that undergo endochondral ossification (aka long bones)
2) Generally arise at the metaphyseal plate
3) Most common sight is the knee

44
Q

What can an osteochondroma progress to if in the presence of multiple hereditary exostosis?

A

Chondrosarcoma

45
Q

Benign tumor of the hyaline cartilage that has endochondral origin; generally appear in the short tubular bones of the feet and hands

A

Chondroma

46
Q

Chondroma that arises within the medullary cavity

A

Enchondroma

47
Q

Chondroma that arises on the surface of bone

A

Subperiosteal chondroma

48
Q

What are the radiographic findings of an enchondroma?

A

1) Oval lucencies that are surrounded by a thin rim of radiodense bone, known as the O ring sign

49
Q

Where do chondroblastomas usually arise? What symptoms does it cause due to its location?

A

1) Epiphyses
2) Painful
3) May cause joint effusions or restrict joint motion

50
Q

Findings on radiograph for a chondroblastoma

A

1) Lucencies with spotty calcifications

51
Q

What are the radiograph findings of a chondromyxoid fibroma?

A

1) Eccentric lucencies that are well delineated from adjacent bone by a rim of sclerosis

52
Q

What are the radiographic findings of a chondrosarcoma?

A

1) Prominent endosteal scalloping

53
Q

Group of tumors that produce neoplastic cartilage generally located centrally; occurs in >40

A

Chondrosarcoma

54
Q

Benign tumor that arises during skeletal growth and development that has curvilinear trabeculae of woven bone surrounded by fibroblastic proliferation

A

Fibrous dysplasia

55
Q

Cellular lesions within bone containing fibroblasts and macrophages; arranged in a storiform pattern

A

Fibrous cortical defect/non-ossifying fibroma

56
Q

What mutation occurs in the fibrous dysplasia variant pattern that has polyostotic, cafe-au-lait, and endocrine abnormalities? What is the name of this syndrome? What is the most common finding?

A

1) Gain of function in the GNAS gene
2) McCune Albright syndrome
3) precocious puberty

57
Q

Radiograph shows a ground glass appearance and a well defined marginated lesion

A

Fibrous dysplasia

58
Q

What is the cause of Ewing sarcoma/primitive neuroectodermal tumor (PNET)

A

1) Translocation of 11:22

59
Q

Tumor that rose from the medullary cavity commonly found in young white boys that has small, round cells and homer-wright rosettes; mimics infection; express c-myc

A

Ewing sarcoma or Primitive neuroectodermal tumor

60
Q

What is a homer-wright rosette? What tumor is it associated with?

A

1) It is a pattern consisting of a circle of tumor cells surrounding a central fibrillary space
2) Found in Ewing sarcoma and primitive neuroectodermal tumors

61
Q

Where do Ewing sarcoma and primitive neuroectodermal tumors arise from?

A

1) The diaphysis of long bones

62
Q

What is the periosteal reaction of Ewing sarcoma/primitive neuroectodermal tumors?

A

Production of reactive bone deposited in an onion skin fashion

63
Q

Benign tumor characterized by multi-loculated blood filled cystic spaces; occur in the first two decades of life; appears in the metaphysis

A

Aneurysmal bone cyst

64
Q

Formation of bone by tumor cells; sunburst pattern by periosteal reaction

A

1) Osteosarcoma

65
Q

Mass on radiograph that appears as an eccentric, expansile lesion with well defined margions; lesion often has a shell of reactive bone at the periphery

A

Aneurysmal bone cyst

66
Q

Bone tumor associated with Paget’s disease

A

Osteosarcoma

72
Q

Tumor composed of a mixture of mononuclear cells and a profusion of multinucleated osteoclast type giant cells; “Soap bubble” appearance on xray; found on epiphyseal

A

Giant cell tumor